Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2003 Apr 11

PMID 12687499

Citations 85

Authors

Zubair M Ahmed

Robert J Morell

Saima Riazuddin

Andrea Gropman

Shahzad Shaukat

Mussaber M Ahmad

Saidi A Mohiddin

Lameh Fananapazir

Rafael C Caruso

Tayyab Husnain

Shaheen N Khan

Sheikh Riazuddin

Andrew J Griffith

Thomas B Friedman

Edward R Wilcox

Affiliations

Soon will be listed here.

Abstract

Cosegregation of profound, congenital deafness with markers on chromosome 6q13 in three Pakistani families defines a new recessive deafness locus, DFNB37. Haplotype analyses reveal a 6-cM linkage region, flanked by markers D6S1282 and D6S1031, that includes the gene encoding unconventional myosin VI. In families with recessively inherited deafness, DFNB37, our sequence analyses of MYO6 reveal a frameshift mutation (36-37insT), a nonsense mutation (R1166X), and a missense mutation (E216V). These mutations, along with a previously published missense allele linked to autosomal dominant progressive hearing loss (DFNA22), provide an allelic spectrum that probes the relationship between myosin VI dysfunction and the resulting phenotype.

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